scholarly journals Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations

Author(s):  
Alexandra Zaharia ◽  
Maude Schneider ◽  
Bronwyn Glaser ◽  
Martina Franchini ◽  
Sarah Menghetti ◽  
...  
2014 ◽  
Vol 119 (3) ◽  
pp. 261-275 ◽  
Author(s):  
Anne Giersch ◽  
Bronwyn Glaser ◽  
Catherine Pasca ◽  
Mélanie Chabloz ◽  
Martin Debbané ◽  
...  

Abstract Individuals with 22q11.2 deletion syndrome (22q11.2DS) are impaired at exploring visual information in space; however, not much is known about visual form discrimination in the syndrome. Thirty-five individuals with 22q11.2DS and 41 controls completed a form discrimination task with global forms made up of local elements. Affected individuals demonstrated clear impairment in detecting local, but not global, differences. Nevertheless, 22q11.2DS participants easily discriminated the same local elements when they were displayed in isolation, and further use of a prime demonstrated preserved facilitation of local processing in 22q11.2DS. These results did not differ by age or IQ. This study illustrates the impact of visuospatial impairments on form discrimination, and suggests how these difficulties may affect visual scanning in 22q11.2DS.


2020 ◽  
Author(s):  
Eli J. Cornblath ◽  
Arun Mahadevan ◽  
Xiaosong He ◽  
Kosha Ruparel ◽  
David M. Lydon-Staley ◽  
...  

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder associated with multiple congenital anomalies, variable medical features, and neurodevelopmental differences resulting in diverse psychiatric phenotypes, including marked deficits in facial memory and social cognition. Neuroimaging in individuals with 22q11.2DS has revealed differences relative to matched controls in BOLD fMRI activation during facial affect processing tasks, but time-varying interactions between brain areas during facial affect processing have not yet been studied in 22q11.2DS. We applied constrained principal component analysis to identify temporally overlapping brain activation patterns from BOLD fMRI data acquired during an emotion identification task from 58 individuals with 22q11.2DS and 58 age-, race-, and sex-matched healthy controls. Delayed frontal-motor feedback signals were diminished in individuals with 22q11.2DS, as were delayed emotional memory signals engaging amygdala, hippocampus, and entorhinal cortex. Early task-related engagement of motor and visual cortices and salience-related insular activation were relatively preserved in 22q11.2DS. Insular activation was associated with task performance within the 22q11.2DS sample. Differences in cortical surface area, but not cortical thickness, showed spatial alignment with an activation pattern associated with face processing. These findings suggest that relative to matched controls, primary visual processing and insular function are relatively intact in individuals with 22q11.22DS, while motor feedback, face processing, and emotional memory processes are more affected. Such insights may help inform potential interventional targets and enhance the specificity of neuroimaging indices of cognitive dysfunction in 22q11.2DS.


Author(s):  
Bronwyn Glaser ◽  
Martin Debbané ◽  
Marie-Christine Ottet ◽  
Patrik Vuilleumier ◽  
Pascal Zesiger ◽  
...  

Author(s):  
Bronwyn Glaser ◽  
Martin Debbané ◽  
Marie-Christine Ottet ◽  
Patrik Vuilleumier ◽  
Pascal Zesiger ◽  
...  

2010 ◽  
Vol 177 (1-2) ◽  
pp. 211-215 ◽  
Author(s):  
Linda Campbell ◽  
Kathryn McCabe ◽  
Kate Leadbeater ◽  
Ulrich Schall ◽  
Carmel Loughland ◽  
...  

Author(s):  
Eli J. Cornblath ◽  
Arun Mahadevan ◽  
Xiaosong He ◽  
Kosha Ruparel ◽  
David M. Lydon-Staley ◽  
...  

AbstractChromosome 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder associated with multiple congenital anomalies, variable medical features, and neurodevelopmental differences resulting in diverse psychiatric phenotypes, including marked deficits in facial memory and social cognition. Neuroimaging in individuals with 22q11.2DS has revealed differences relative to matched controls in BOLD fMRI activation during facial affect processing tasks. However, time-varying interactions between brain areas during facial affect processing have not yet been studied with BOLD fMRI in 22q11.2DS. We applied constrained principal component analysis to identify temporally overlapping brain activation patterns from BOLD fMRI data acquired during an emotion identification task from 58 individuals with 22q11.2DS and 58 age-, race-, and sex-matched healthy controls. Delayed frontal-motor feedback signals were diminished in individuals with 22q11.2DS, as were delayed emotional memory signals engaging amygdala, hippocampus, and entorhinal cortex. Early task-related engagement of motor and visual cortices and salience-related insular activation were relatively preserved in 22q11.2DS. Insular activation was associated with task performance within the 22q11.2DS sample. Differences in cortical surface area, but not cortical thickness, showed spatial alignment with an activation pattern associated with face processing. These findings suggest that relative to matched controls, primary visual processing and insular function are relatively intact in individuals with 22q11.22DS, while motor feedback, face processing, and emotional memory processes are more affected. Such insights may help inform potential interventional targets and enhance the specificity of neuroimaging indices of cognitive dysfunction in 22q11.2DS.


2018 ◽  
Vol 2 (8) ◽  
Author(s):  
Bronwyn Glaser

Introduction: Vis-à-Vis (VAV), an online enrichment program targeting skills that underlie social abilities (looking at the eye region of faces, emotion comprehension & recognition and visuo-spatial working memory) was administered to children and adolescents with autism spectrum disorder (ASD), 22q11.2 deletion syndrome (22q11DS)) and developmental delay (DD).  Differential functional activation throughout the brain and in regions related to face processing were measured before and after remediation. Methods: Participants with ASD (N=16), 22q11DS (N=12), and DD (N=9) completed a functional localizer task consisting of pictures of faces and tools before undertaking the 12-week VAV program (PreR). The same fMRI task was administered immediately after VAV, at post-remediation (PostR), and again three months later (Break). A group of healthy controls (N=10) was scanned, but not given VAV, to provide a baseline comparison for patients’ results. Functional neuroimaging data was analysed for category-specific brain activity. Results: The ASD and the 22q11DS groups both showed atypical activation to faces at PreR compared to controls. Whereas activation in 22q11DS at PostR and Break resembled that of controls in bilateral superior temporal gyrus, insula, bilateral precentral gyrus, right lingual gyrus and right middle frontal cortex. Unlike the 22q11DS group, the ASD group’s activation did not resemble that of controls at PostR or Break. Significant clusters in the ASD group were limited to left insula and right lingual gyrus at PostR, and right superior frontal gyrus at Break. Nevertheless, a significant relationship between increased BOLD response between PreR and PostR in the right fusiform gyrus and improvement on the VAV games teaching participants to focus on the eyes was observed in both groups. This relationship was not present in the DD group. Conclusions: These results support hypo-activation in response to faces in ASD and 22q11DS and differential cerebral activation in face processing networks following cognitive remediation.


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